Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype.

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Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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2016年學術文章

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Single amino acid loss in the ...... ith a mild clinical phenotype.

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Single amino acid loss in the ...... ith a mild clinical phenotype.

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type

Item

label

Single amino acid loss in the ...... ith a mild clinical phenotype.

@en

Single amino acid loss in the ...... ith a mild clinical phenotype.

@nl

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Single amino acid loss in the ...... ith a mild clinical phenotype.

@en

Single amino acid loss in the ...... ith a mild clinical phenotype.

@nl

P1476

Single amino acid loss in the ...... ith a mild clinical phenotype.

@en

P2093

Argirios Dinopoulos

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Artemis Gkika

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Constantinos Papadopooulos

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Emmanouel Kanavakis

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George Papadimas

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Ioanis Nikas

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Kyriaki Kekou

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Maria Svingou

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Nikolaos Vogiatzakis

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Roser Pons

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P2860

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up.

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.

Spectrin-like repeats 11-15 of human dystrophin show adaptations to a lipidic environment.

Spanish family with myalgia and cramps syndrome.

Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects.

C-terminal truncated dystrophin identified in skeletal muscle of an asymptomatic boy with a novel nonsense mutation of the dystrophin gene.

P304

46-50

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P31

scholarly article

P356

10.1002/MUS.25190

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P433

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P478

http://www.w3.org/2001/XMLSchema#string

P577

2016-10-28T00:00:00Z

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P698

27178005

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